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Pfeiffer syndrome is caused by mutations in the fibroblast growth factor receptors FGFR1 and FGFR2. The syndrome is grouped into three types: type 1 (classic Pfeiffer syndrome) is milder and caused by mutations in either gene; types 2 and 3 are more severe, often leading to death in infancy, caused by mutations in FGFR2 .
Glandular fever, Pfeiffer's disease, Filatov's disease, kissing disease: Swollen lymph nodes in the neck of a person with infectious mononucleosis: Specialty: Infectious disease: Symptoms: Fever, sore throat, enlarged lymph nodes in the neck, fatigue: Complications: Swelling of the liver or spleen: Duration: 2–4 weeks: Causes
Cardiocranial syndrome, Pfeiffer type is a rare multiple disorder syndrome characterized by congenital heart defects, sagittal craniosynostosis, and severe developmental delay. The condition has been reported in less than 10 patients worldwide. Signs and symptoms. Features of this condition include: Abnormal heart morphology
Causes Genetic mutations; C to G mutation at the position 755 in the FGFR2 gene (two-thirds of cases) Apert syndrome is a form of acrocephalosyndactyly , a congenital disorder characterized by malformations of the skull, face, hands and feet.
Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly.
The syndrome is caused by a mutation in a gene on chromosome 10 that controls the body's production of fibroblast growth factor receptor 2 (FGFR2). Crouzon syndrome is named for Octave Crouzon, a French physician who first described this disorder.
An activating mutation in FGFR1 viz., P232R (proline-to-arginine substitution in the protein's 232nd amino acid), is responsible for the Type 1 or classic form of Pfeiffer syndrome, a disease characterized by craniosynostosis and mid-face deformities. A tyrosine-to-cysteine substitution mutation in the 372nd amino acid of FGFR1 (Y372C) is ...
A conductive hearing loss along with middle ear disease is most commonly seen in patients with Pfeiffer syndrome; although, there have been reports of mixed hearing loss as well. The hearing loss is most typically caused by stenosis or atresia of the auditory canal , middle ear hypoplasia and ossicular hypoplasia (Vallino-Napoli, 1996).
Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15, which encodes fibrillin 1, a glycoprotein component of the extracellular matrix. Fibrillin-1 is essential for the proper formation of the extracellular matrix, including the biogenesis and maintenance of elastic fibers.
Kleeblattschaedel. Kleeblattschaedel is a rare malformation of the head where there is a protrusion of the skull and broadening of the face. [2] This condition is a severe type of craniosynostosis. [3] The condition can be both isolated or associated with other craniofacial dysostosises. [4] 85% of children with this condition have other ...